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PTPN11 Mutation Associated with Aortic Dilation and Hypertrophic Cardiomyopathy in a Pediatric Patient with Noonan Syndrome
Pediatric Cardiology, 10/13/09
Jefferies JL et al. – The authors describe an 8–year–old girl who had Noonan syndrome involving a PTPN11 mutation, hypertrophic cardiomyopathy, main pulmonary artery dilation, and aortic root dilation. This is the first case in which all three of these cardiovascular features have been observed in a single patient with Noonan syndrome.
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